-
1
-
-
0022219639
-
High frequency of non-classical steroid 21-hydroxylase deficiency
-
Speiser PW, Dupont B, Rubinstein P, et al. High frequency of non-classical steroid 21-hydroxylase deficiency. Am J Hum Genet 1985; 37: 650-67.
-
(1985)
Am J Hum Genet
, vol.37
, pp. 650-667
-
-
Speiser, P.W.1
Dupont, B.2
Rubinstein, P.3
-
3
-
-
0002948430
-
Disorders of sex differentiation
-
Wilson JD, Foster DW, eds. Philadelphia: W B Saunders
-
Grumbach MM, Conte FA. Disorders of sex differentiation. In: Wilson JD, Foster DW, eds. Williams textbook of endocrinology, 8th ed. Philadelphia: W B Saunders, 1992: 853-951.
-
(1992)
Williams Textbook of Endocrinology, 8th Ed.
, pp. 853-951
-
-
Grumbach, M.M.1
Conte, F.A.2
-
4
-
-
0023222186
-
Nonclassic adrenal hyperplasia due to 21-hydroxylase deficiency
-
Drucker S, New MI. Nonclassic adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatr Clin North Am 1987; 34: 1067-81.
-
(1987)
Pediatr Clin North Am
, vol.34
, pp. 1067-1081
-
-
Drucker, S.1
New, M.I.2
-
5
-
-
0027466656
-
Partnership and sexuality in adult female patients with congenital adrenal hyperplasia. First results of a cross-sectional quality-of-life evaluation
-
Kuhnle U, Bullinger M, Schwarz HP, Knorr D. Partnership and sexuality in adult female patients with congenital adrenal hyperplasia. First results of a cross-sectional quality-of-life evaluation. J Steroid Biochem Mol Biol 1993; 45: 123-6.
-
(1993)
J Steroid Biochem Mol Biol
, vol.45
, pp. 123-126
-
-
Kuhnle, U.1
Bullinger, M.2
Schwarz, H.P.3
Knorr, D.4
-
6
-
-
0028154269
-
Genetics, diagnosis and management of 21-hydroxylase deficiency
-
Miller WL. Genetics, diagnosis and management of 21-hydroxylase deficiency. J Clin Endocrinol Metab 1994; 78: 241-6.
-
(1994)
J Clin Endocrinol Metab
, vol.78
, pp. 241-246
-
-
Miller, W.L.1
-
7
-
-
0021966169
-
Genetic differences between the salt-wasting, simple virilizing, and the non-classical types of congenital adrenal hyperplasia
-
Holler W, Scholz S, Knorr D, Bidlingmaier F, Keller E, Albert ED. Genetic differences between the salt-wasting, simple virilizing, and the non-classical types of congenital adrenal hyperplasia. J Clin Endocrinol Metab 1985; 60: 757-63.
-
(1985)
J Clin Endocrinol Metab
, vol.60
, pp. 757-763
-
-
Holler, W.1
Scholz, S.2
Knorr, D.3
Bidlingmaier, F.4
Keller, E.5
Albert, E.D.6
-
8
-
-
0022273248
-
Different gene defect in the salt-wasting (SW), simple virilizing (SV), and nonclassical (NC) types of congenital adrenal hyperplasia (CAH)
-
Knorr D, Albert ED, Bidlingmaier F, Holler W, Scholz S. Different gene defect in the salt-wasting (SW), simple virilizing (SV), and nonclassical (NC) types of congenital adrenal hyperplasia (CAH). Ann NY Acad Sci 1985; 458: 71-5.
-
(1985)
Ann NY Acad Sci
, vol.458
, pp. 71-75
-
-
Knorr, D.1
Albert, E.D.2
Bidlingmaier, F.3
Holler, W.4
Scholz, S.5
-
9
-
-
0021997444
-
'Cryptic' form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in the Yugoslav population
-
Dumic M, Brkljacic L, Mardesic D, Plavsic V, Lukenda M, Kastelan A. 'Cryptic' form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in the Yugoslav population. Acta Endocrinol 1985; 109: 386-92.
-
(1985)
Acta Endocrinol
, vol.109
, pp. 386-392
-
-
Dumic, M.1
Brkljacic, L.2
Mardesic, D.3
Plavsic, V.4
Lukenda, M.5
Kastelan, A.6
-
10
-
-
0020296241
-
Late-onset steroid 21-hydroxylase deficiency: A variant of classical adrenal hyperplasia
-
Kohn B, Levine LS, Pollack MS, et al. Late-onset steroid 21-hydroxylase deficiency: a variant of classical adrenal hyperplasia. J Clin Endocrinol Metab 1982; 55: 817.
-
(1982)
J Clin Endocrinol Metab
, vol.55
, pp. 817
-
-
Kohn, B.1
Levine, L.S.2
Pollack, M.S.3
-
11
-
-
0020028483
-
Late-onset 21-hydroxylase deficiency mimicking idiopathic hirsutism or polycystic ovarian disease. An allelic variant of congenital virilizing adrenal hyperplasia with a milder enzymatic defect
-
Chrousos GP, Loriaux DL, Mann D, Cutler GB. Late-onset 21-hydroxylase deficiency mimicking idiopathic hirsutism or polycystic ovarian disease. An allelic variant of congenital virilizing adrenal hyperplasia with a milder enzymatic defect. Ann Intern Med 1982; 96: 143-8.
-
(1982)
Ann Intern Med
, vol.96
, pp. 143-148
-
-
Chrousos, G.P.1
Loriaux, D.L.2
Mann, D.3
Cutler, G.B.4
-
12
-
-
0021925348
-
Genetics and biochemical variability of variants of 21-hydroxylase deficiency
-
Gordon MT, Conway DI, Anderson DC, Harris R. Genetics and biochemical variability of variants of 21-hydroxylase deficiency. J Med Genet 1985; 22: 354-69.
-
(1985)
J Med Genet
, vol.22
, pp. 354-369
-
-
Gordon, M.T.1
Conway, D.I.2
Anderson, D.C.3
Harris, R.4
-
13
-
-
0027179228
-
Late diagnosis of 21-hydroxylase deficiencies in children after the age of three years
-
Carel JC, Marrakchi Z, Roger M, Morel Y, Chaussain JL. Late diagnosis of 21-hydroxylase deficiencies in children after the age of three years. Ann Pediatr 1993; 40: 410-20.
-
(1993)
Ann Pediatr
, vol.40
, pp. 410-420
-
-
Carel, J.C.1
Marrakchi, Z.2
Roger, M.3
Morel, Y.4
Chaussain, J.L.5
-
14
-
-
0021830172
-
Late-onset adrenal hyperplasia in hirsutism
-
Kuttenn F, Couillin P, Girard F, et al. Late-onset adrenal hyperplasia in hirsutism. N Engl J Med 1985; 313: 224-31.
-
(1985)
N Engl J Med
, vol.313
, pp. 224-231
-
-
Kuttenn, F.1
Couillin, P.2
Girard, F.3
-
15
-
-
0026540856
-
The clitoral index: A determination of clitoral size in normal girls and in girls with abnormal sexual development
-
Sane K, Pescovitz OH. The clitoral index: A determination of clitoral size in normal girls and in girls with abnormal sexual development. J Pediatr 1992; 120: 264-6.
-
(1992)
J Pediatr
, vol.120
, pp. 264-266
-
-
Sane, K.1
Pescovitz, O.H.2
-
16
-
-
0023002143
-
Normal growth and techniques of growth assessment
-
Tanner JM. Normal growth and techniques of growth assessment. J Clin Endocrinol Metab 1986; 15: 411-51.
-
(1986)
J Clin Endocrinol Metab
, vol.15
, pp. 411-451
-
-
Tanner, J.M.1
-
19
-
-
0025128954
-
Plasma C19 steroid sulphate levels and indices of androgen bioavailability in female pattern androgenic alopecia
-
Montalto J, Whorwood CB, Funder JW, et al. Plasma C19 steroid sulphate levels and indices of androgen bioavailability in female pattern androgenic alopecia. Clin Endocrinol 1990; 32: 1-12.
-
(1990)
Clin Endocrinol
, vol.32
, pp. 1-12
-
-
Montalto, J.1
Whorwood, C.B.2
Funder, J.W.3
-
20
-
-
0028608055
-
Corticosterone methyl oxidase type II (CMO II) deficiency: Biochemical approach to diagnosis
-
Yong ABW, Montalto J, Pitt J, Oakes S, Preston T, Buchanan C. Corticosterone methyl oxidase type II (CMO II) deficiency: biochemical approach to diagnosis. Clin Biochem 1994; 27: 491-4.
-
(1994)
Clin Biochem
, vol.27
, pp. 491-494
-
-
Yong, A.B.W.1
Montalto, J.2
Pitt, J.3
Oakes, S.4
Preston, T.5
Buchanan, C.6
-
21
-
-
0026059417
-
Normative data for adrenal steroidogenesis in a healthy pediatric population: Age- and sex-related changes after adreno-corticotrophin stimulation
-
Lashansky G, Saenger P, Fishman K, et al. Normative data for adrenal steroidogenesis in a healthy pediatric population: age- and sex-related changes after adreno-corticotrophin stimulation. J Clin Endocrinol Metab 1991; 73: 674-86.
-
(1991)
J Clin Endocrinol Metab
, vol.73
, pp. 674-686
-
-
Lashansky, G.1
Saenger, P.2
Fishman, K.3
-
23
-
-
0023951040
-
Comparison of basal and adrenocorticotropin-stimulated plasma 21-deoxycortisol and 17-hydroxyprogesterone values as biological markers of late-onset adrenal hyperplasia
-
Fiet J, Gueux B, Gourmelen M, et al. Comparison of basal and adrenocorticotropin-stimulated plasma 21-deoxycortisol and 17-hydroxyprogesterone values as biological markers of late-onset adrenal hyperplasia. J Clin Endocrinol Metab 1988; 66: 659-67.
-
(1988)
J Clin Endocrinol Metab
, vol.66
, pp. 659-667
-
-
Fiet, J.1
Gueux, B.2
Gourmelen, M.3
-
26
-
-
0023185462
-
Screening for late-onset congenital adrenal hyperplasia in hirsutism or amenorrhea
-
Baskin HJ. Screening for late-onset congenital adrenal hyperplasia in hirsutism or amenorrhea. Arch Intern Med 1987; 147: 847-8.
-
(1987)
Arch Intern Med
, vol.147
, pp. 847-848
-
-
Baskin, H.J.1
-
27
-
-
0024444516
-
21-Hydroxylase deficiency in female hyperandrogenism: Screening and diagnosis
-
Azziz R, Zacur HA. 21-Hydroxylase deficiency in female hyperandrogenism: screening and diagnosis. J Clin Endocrinol Metab 1989; 69: 577-84.
-
(1989)
J Clin Endocrinol Metab
, vol.69
, pp. 577-584
-
-
Azziz, R.1
Zacur, H.A.2
-
28
-
-
0020556434
-
Genotyping steroid 21-hydroxylase deficiency: Hormonal reference data
-
New MI, Lorenzen F, Lerner AJ, et al. Genotyping steroid 21-hydroxylase deficiency: hormonal reference data. J Clin Endocrinol Metab 1983; 57: 320-6.
-
(1983)
J Clin Endocrinol Metab
, vol.57
, pp. 320-326
-
-
New, M.I.1
Lorenzen, F.2
Lerner, A.J.3
-
29
-
-
0028954446
-
Steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia)
-
New M. Steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia). Am J Med 1995; 98 (suppl 1): 3-8S.
-
(1995)
Am J Med
, vol.98
, Issue.1 SUPPL.
-
-
New, M.1
-
30
-
-
0026580361
-
Clinical heterogeneity of 21-hydroxylase deficiency of sibs with identical 21-hydroxylase genes
-
Borman M, Kochhan L, Knorr D, et al. Clinical heterogeneity of 21-hydroxylase deficiency of sibs with identical 21-hydroxylase genes. Acta Endocrinol 1992; 126: 7-9.
-
(1992)
Acta Endocrinol
, vol.126
, pp. 7-9
-
-
Borman, M.1
Kochhan, L.2
Knorr, D.3
-
32
-
-
0026667432
-
Evaluation of young women with congenital adrenal hyperplasia: A pilot study
-
van der Kamp HJ, Slijper FME, Brandenburg H, et al. Evaluation of young women with congenital adrenal hyperplasia: a pilot study. Horm Res 1992; 37 (suppl 3): 45-9.
-
(1992)
Horm Res
, vol.37
, Issue.3 SUPPL.
, pp. 45-49
-
-
Van Der Kamp, H.J.1
Slijper, F.M.E.2
Brandenburg, H.3
-
33
-
-
0024418913
-
Growth and body proportions in congenital adrenal hyperplasia
-
Young MC, Ribeiro J, Hughes IA. Growth and body proportions in congenital adrenal hyperplasia. Arch Dis Child 1989; 64: 1554-8.
-
(1989)
Arch Dis Child
, vol.64
, pp. 1554-1558
-
-
Young, M.C.1
Ribeiro, J.2
Hughes, I.A.3
-
34
-
-
4243341255
-
Final height and long-term follow-up of 108 adult patients with congenital adrenal hyperplasia
-
Jocham A, Kuhnle U, Knorr D, Schwarz HD. Final height and long-term follow-up of 108 adult patients with congenital adrenal hyperplasia [abstr]. Pediatr Res 1993; 33 (suppl 1): S81.
-
(1993)
Pediatr Res
, vol.33
, Issue.1 SUPPL.
-
-
Jocham, A.1
Kuhnle, U.2
Knorr, D.3
Schwarz, H.D.4
|